Canonical Allele Identifier: CA2381739128
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.22259268C= , CM000683.2:g.22259268C= GRCh38
NC_000021.8:g.23631588C= , CM000683.1:g.23631588C= GRCh37
NC_000021.7:g.22553459C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754978.1:n.221+46455C=